Variant report

Variant	rs136318
Chromosome Location	chr22:31171120-31171121
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1040422	0.94[ASN][1000 genomes]
rs136217	0.82[EUR][1000 genomes]
rs136234	0.82[EUR][1000 genomes]
rs136255	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs136256	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs136267	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs136292	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs136320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs136329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs136342	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs136348	0.85[ASN][1000 genomes]
rs136351	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs136354	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs136355	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs136356	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5753299	0.81[EUR][1000 genomes]
rs5753300	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58467547	0.83[ASN][1000 genomes]
rs8141331	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv2763260	chr22:31141521-31185000	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31140000-31185400	Weak transcription	Fetal Brain Female	brain
2	chr22:31150000-31173400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr22:31151400-31172800	Weak transcription	Brain Anterior Caudate	brain
4	chr22:31160200-31172600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr22:31160200-31177400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:31167600-31176000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr22:31168000-31173400	Weak transcription	Brain Substantia Nigra	brain
8	chr22:31168000-31173600	Weak transcription	Brain Angular Gyrus	brain
9	chr22:31168000-31185400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr22:31168600-31175600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr22:31168600-31175800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr22:31168600-31175800	Weak transcription	Right Atrium	heart
13	chr22:31171000-31171800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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